Article
ALOX12 mutation in a family with dominantly inherited bleeding diathesis.
Journal of human genetics - 1 Aug 2021
Mitsui Tetsuo, Makino Satoshi, Tamiya Gen, Sato Hiroko, Kawakami Yuki, Takahashi Yoshitaka, Meguro Toru, Izumino Hiroko, Sudo Yosuke, Norota Ikuo, Ishii Kuniaki, Hayasaka Kiyoshi
Abstract excerpt
The arachidonic acid (AA) cascade plays a significant role in platelet aggregation. AA released from membrane phospholipids is metabolized by cyclooxygenase (COX) pathway to thromboxane A2 (TXA2) or by 12S-lipoxygenase (ALOX12) to 12-hydroperoxyeicosatetraenoic acid (12-HPETE). In contrast to a well-known role of the COX pathway in platelet aggregation, the role of ALOX12 is not well understood. Platelets of...
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